筋ジストロフィー

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_004393.6(DAG1):c.2597dup (p.Pro867fs)	DAG1	Likely pathogenic	3	49570536	49570537	G	GC	criteria provided, single submitter	ClinGen:CA658796323
Deletion	NM_004006.3(DMD):c.5910del (p.Phe1971fs)	DMD	Pathogenic	X	32360229	32360229	AG	A	criteria provided, single submitter	ClinGen:CA658799686
single nucleotide variant	NM_182961.4(SYNE1):c.23020-1G>A	SYNE1	Pathogenic	6	152523085	152523085	C	T	criteria provided, single submitter	ClinGen:CA366093313
Deletion	NM_004006.3(DMD):c.10504del (p.Glu3502fs)	DMD	Pathogenic/Likely pathogenic	X	31187609	31187609	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799631
Deletion	NM_182961.3(SYNE1):c.9973delG (p.Ala3325Leufs)	SYNE1	Pathogenic	6	152686154	152686154	GC	G	criteria provided, single submitter	ClinGen:CA658796848
single nucleotide variant	NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)	DMD	Pathogenic/Likely pathogenic	X	31854865	31854865	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412659279
single nucleotide variant	NM_004369.4(COL6A3):c.4835C>A (p.Ser1612Ter)	COL6A3	Pathogenic	2	238277271	238277271	G	T	criteria provided, single submitter	ClinGen:CA351190821
Insertion	NM_004006.3(DMD):c.478_479insAC (p.Thr160fs)	DMD	Pathogenic	X	32834636	32834637	G	GGT	criteria provided, single submitter	ClinGen:CA658799683
single nucleotide variant	NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)	SYNE1	Pathogenic	6	152651176	152651176	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4055974
single nucleotide variant	NM_001849.4(COL6A2):c.1053+1G>C	COL6A2	Pathogenic/Likely pathogenic	21	47537368	47537368	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA410527404